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001442752 001__ 1442752
001442752 003__ OCoLC
001442752 005__ 20230310003433.0
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001442752 019__ $$a1285489478$$a1285558486$$a1285578512$$a1294358525$$a1296666557
001442752 020__ $$a9783030855109$$q(electronic bk.)
001442752 020__ $$a3030855104$$q(electronic bk.)
001442752 020__ $$z9783030855093$$q(print)
001442752 020__ $$z3030855090
001442752 0247_ $$a10.1007/978-3-030-85510-9$$2doi
001442752 035__ $$aSP(OCoLC)1285714507
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001442752 049__ $$aISEA
001442752 050_4 $$aRB155.6
001442752 08204 $$a616/.042$$223
001442752 1001_ $$aBourn, David,$$eauthor.
001442752 24510 $$aDiagnostic genetic testing :$$bcore concepts and the wider context for human DNA analysis /$$cDavid Bourn.
001442752 264_1 $$aCham, Switzerland :$$bSpringer,$$c[2022]
001442752 300__ $$a1 online resource (xxii, 131 pages) :$$billustrations (some color)
001442752 336__ $$atext$$btxt$$2rdacontent
001442752 337__ $$acomputer$$bc$$2rdamedia
001442752 338__ $$aonline resource$$bcr$$2rdacarrier
001442752 347__ $$atext file
001442752 347__ $$bPDF
001442752 5050_ $$aGenetic Testing, Some Themes and Some Basics -- Autosomal Dominant Inheriance and Huntington Disease -- Autosomal Recessive Inheritance and Cystic Fibrosis -- X-linked Inheritance: a Question of Gender -- Genetics Testing in Cancer -- DNA Testing, Genes and Identity -- Out of Sequence: Genome-Scale Testing -- DNA Testing: Pulling the Strands Together.
001442752 506__ $$aAccess limited to authorized users.
001442752 520__ $$aOver the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.
001442752 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed November 19, 2021).
001442752 650_0 $$aHuman chromosome abnormalities$$xDiagnosis.
001442752 650_6 $$aChromosomes humains$$xAnomalies$$xDiagnostic.
001442752 655_0 $$aElectronic books.
001442752 77608 $$iPrint version:$$z3030855090$$z9783030855093$$w(OCoLC)1261363003
001442752 852__ $$bebk
001442752 85640 $$3Springer Nature$$uhttps://univsouthin.idm.oclc.org/login?url=https://link.springer.com/10.1007/978-3-030-85510-9$$zOnline Access$$91397441.1
001442752 909CO $$ooai:library.usi.edu:1442752$$pGLOBAL_SET
001442752 980__ $$aBIB
001442752 980__ $$aEBOOK
001442752 982__ $$aEbook
001442752 983__ $$aOnline
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